Alström syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia, and neurosensory deficits3,4. The Alström locus is likely to interact with genetic modifiers as subsets of patients present with additional features such as dilated cardiomyopathy5, hepatic dysfunction6, hypothyroidism7, male hypogonadism, short stature and mild to moderate developmental delay and with secondary complications normally associated with type 2 diabetes, such as hyperlipidemia and atherosclerosis. The locus for Alström syndrome was initially mapped to chromosome 2p 13 in a large French Acadian kindred within a 14.9 cM region8 and later to a refined interval of 6.1 cM9,10.